Journal of Clinical & Experimental Dermatology Research
Open Access
ISSN: 2155-9554
+44 1478 350008
ISSN: 2155-9554
+44 1478 350008
Ze-Lin Ma
Indiana
Research Article
Filaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population
Author(s): Chang-Xing Li, Quan Luo, Xue-Mei Li, Xi-Bao Zhang, Chun-Lei Han, Ze-Lin Ma and Dong-Zi LinChang-Xing Li, Quan Luo, Xue-Mei Li, Xi-Bao Zhang, Chun-Lei Han, Ze-Lin Ma and Dong-Zi Lin
Background: Filaggrin (FLG) plays an important role in the epidermal barrier function, which identi fi ed in patients with ichthyosis vulgaris (IV).Objective: To study the genetics of FLG mutations in Southern Chinese patients with IV.Methods: We evaluated the in fl uence of fi ve mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom® MassARRAY® system.Results: The null allele frequency of 3321delA was 52.31 % (34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients.Conclusions: These fi ndings show that the mutation 3321delA represent the most frequent genetic cause in S.. View More»
DOI:
10.4172/2155-9554.1000102